LOCUS       NM_015087               4900 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens spartin (SPART), transcript variant 1, mRNA.
ACCESSION   NM_015087
VERSION     NM_015087.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4900)
  AUTHORS   Gahlot,P., Kravic,B., Rota,G., van den Boom,J., Levantovsky,S.,
            Schulze,N., Maspero,E., Polo,S., Behrends,C. and Meyer,H.
  TITLE     Lysosomal damage sensing and lysophagy initiation by SPG20-ITCH
  JOURNAL   Mol Cell 84 (8), 1556-1569 (2024)
   PUBMED   38503285
  REMARK    GeneRIF: Lysosomal damage sensing and lysophagy initiation by
            SPG20-ITCH.
REFERENCE   2  (bases 1 to 4900)
  AUTHORS   Wan,N., Hong,Z., Parson,M.A.H., Korfhage,J.L., Burke,J.E.,
            Melia,T.J. and Reinisch,K.M.
  TITLE     Spartin-mediated lipid transfer facilitates lipid droplet turnover
  JOURNAL   Proc Natl Acad Sci U S A 121 (3), e2314093121 (2024)
   PUBMED   38190532
REFERENCE   3  (bases 1 to 4900)
  AUTHORS   Chung,J., Park,J., Lai,Z.W., Lambert,T.J., Richards,R.C., Zhang,J.,
            Walther,T.C. and Farese,R.V. Jr.
  TITLE     The Troyer syndrome protein spartin mediates selective autophagy of
            lipid droplets
  JOURNAL   Nat Cell Biol 25 (8), 1101-1110 (2023)
   PUBMED   37443287
REFERENCE   4  (bases 1 to 4900)
  AUTHORS   Hassan,N.A., Idriss,N.K., Gaber,N., Ibrahim,A., Tawfeek,M.A.,
            Mossad,E., Mosa,A.A., Ahmed,E.H., Sayed,S.A., Ahmed,H.A. and
            Mohamed,A.A.M.
  TITLE     Spastic Paraplegia 20 and Serine/Threonine Protein Kinase 31
            Expression for the Detection of Colorectal Cancer
  JOURNAL   Cell Physiol Biochem 56 (2), 138-149 (2022)
   PUBMED   35389570
  REMARK    GeneRIF: Spastic Paraplegia 20 and Serine/Threonine Protein Kinase
            31 Expression for the Detection of Colorectal Cancer.
REFERENCE   5  (bases 1 to 4900)
  AUTHORS   Ciccarelli,F.D., Proukakis,C., Patel,H., Cross,H., Azam,S.,
            Patton,M.A., Bork,P. and Crosby,A.H.
  TITLE     The identification of a conserved domain in both spartin and
            spastin, mutated in hereditary spastic paraplegia
  JOURNAL   Genomics 81 (4), 437-441 (2003)
   PUBMED   12676568
REFERENCE   6  (bases 1 to 4900)
  AUTHORS   Patel,H., Cross,H., Proukakis,C., Hershberger,R., Bork,P.,
            Ciccarelli,F.D., Patton,M.A., McKusick,V.A. and Crosby,A.H.
  TITLE     SPG20 is mutated in Troyer syndrome, an hereditary spastic
            paraplegia
  JOURNAL   Nat Genet 31 (4), 347-348 (2002)
   PUBMED   12134148
  REMARK    GeneRIF: SPG20 is mutated in Troyer syndrome, an hereditary spastic
            paraplegia.We report mapping of the TRS locus to chromosome 13q12.3
            and identify a frameshift mutation in SPG20, encoding spartin
REFERENCE   7  (bases 1 to 4900)
  AUTHORS   Auer-Grumbach,M., Fazekas,F., Radner,H., Irmler,A.,
            Strasser-Fuchs,S. and Hartung,H.P.
  TITLE     Troyer syndrome: a combination of central brain abnormality and
            motor neuron disease?
  JOURNAL   J Neurol 246 (7), 556-561 (1999)
   PUBMED   10463356
REFERENCE   8  (bases 1 to 4900)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   9  (bases 1 to 4900)
  AUTHORS   Baple,E. and Crosby,A.
  TITLE     Troyer Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301556
REFERENCE   10 (bases 1 to 4900)
  AUTHORS   Cross,H.E. and McKusick,V.A.
  TITLE     The Troyer syndrome. A recessive form of spastic paraplegia with
            distal muscle wasting
  JOURNAL   Arch Neurol 16 (5), 473-485 (1967)
   PUBMED   6022528
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA710623.1, AB011182.1,
            AL139377.8 and BU622545.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_015087.4.
            
            Summary: This gene encodes a protein containing a MIT (Microtubule
            Interacting and Trafficking molecule) domain, and is implicated in
            regulating endosomal trafficking and mitochondria function. The
            protein localizes to mitochondria and partially co-localizes with
            microtubules. Stimulation with epidermal growth factor (EGF)
            results in protein translocation to the plasma membrane, and the
            protein functions in the degradation and intracellular trafficking
            of EGF receptor. Multiple alternatively spliced variants, encoding
            the same protein, have been identified. Mutations associated with
            this gene cause autosomal recessive spastic paraplegia 20 (Troyer
            syndrome). [provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2, 3, and 4 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.39750.1,
                                           SRR1660809.215997.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467146 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000438666.7/ ENSP00000406061.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-111               DA710623.1         91-201
            112-2796            AB011182.1         1-2685
            2797-4261           AL139377.8         77947-79411         c
            4262-4900           BU622545.1         17-655              c
FEATURES             Location/Qualifiers
     source          1..4900
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.3"
     gene            1..4900
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /note="spartin"
                     /db_xref="GeneID:23111"
                     /db_xref="HGNC:HGNC:18514"
                     /db_xref="MIM:607111"
     exon            1..170
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            171..982
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             173..2173
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /note="trans-activated by hepatitis C virus core protein
                     1; spastic paraplegia 20 (Troyer syndrome)"
                     /codon_start=1
                     /product="spartin"
                     /protein_id="NP_055902.1"
                     /db_xref="CCDS:CCDS9356.1"
                     /db_xref="GeneID:23111"
                     /db_xref="HGNC:HGNC:18514"
                     /db_xref="MIM:607111"
                     /translation="MEQEPQNGEPAEIKIIREAYKKAFLFVNKGLNTDELGQKEEAKN
                     YYKQGIGHLLRGISISSKESEHTGPGWESARQMQQKMKETLQNVRTRLEILEKGLATS
                     LQNDLQEVPKLYPEFPPKDMCEKLPEPQSFSSAPQHAEVNGNTSTPSAGAVAAPASLS
                     LPSQSCPAEAPPAYTPQAAEGHYTVSYGTDSGEFSSVGEEFYRNHSQPPPLETLGLDA
                     DELILIPNGVQIFFVNPAGEVSAPSYPGYLRIVRFLDNSLDTVLNRPPGFLQVCDWLY
                     PLVPDRSPVLKCTAGAYMFPDTMLQAAGCFVGVVLSSELPEDDRELFEDLLRQMSDLR
                     LQANWNRAEEENEFQIPGRTRPSSDQLKEASGTDVKQLDQGNKDVRHKGKRGKRAKDT
                     SSEEVNLSHIVPCEPVPEEKPKELPEWSEKVAHNILSGASWVSWGLVKGAEITGKAIQ
                     KGASKLRERIQPEEKPVEVSPAVTKGLYIAKQATGGAAKVSQFLVDGVCTVANCVGKE
                     LAPHVKKHGSKLVPESLKKDKDGKSPLDGAMVVAASSVQGFSTVWQGLECAAKCIVNN
                     VSAETVQTVRYKYGYNAGEATHHAVDSAVNVGVTAYNINNIGIKAMVKKTATQTGHTL
                     LEDYQIVDNSQRENQEGAANVNVRGEKDEQTKEVKEAKKKDK"
     exon            983..1180
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1181..1336
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1337..1460
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1461..1655
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1656..1814
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1815..1905
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1906..4900
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2915..2920
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /note="hexamer: ATTAAA"
     polyA_site      2936
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /note="major polyA site"
     regulatory      3377..3382
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /note="hexamer: ATTAAA"
     polyA_site      3398
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
     regulatory      3493..3498
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /note="hexamer: AATAAA"
     polyA_site      3519
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
     regulatory      4875..4880
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
                     /note="hexamer: TATAAA"
     polyA_site      4900
                     /gene="SPART"
                     /gene_synonym="SPG20; TAHCCP1"
ORIGIN      
        1 gtcttggttg ccacggcaag cgcgcgcgcg aggccttggg aacctcggga ccggcccccg
       61 gcgagcgcag cggcgcccag tgtaagggag tgggagctgg tccgtgccgc ggcggccgcg
      121 cagggagctc tcgaggcaac gccggggcgc ccgaggtctg gaaggcgcag aaatggagca
      181 agagccacaa aatggagaac ctgctgaaat taagatcatc agagaagcat ataagaaggc
      241 ctttttattt gttaacaaag gtctgaatac agatgaatta ggtcagaagg aagaagcaaa
      301 gaactactat aagcaaggaa taggacacct gctcagaggg atcagcattt catcaaaaga
      361 gtctgaacac acaggtcctg ggtgggaatc tgctagacag atgcaacaga aaatgaaaga
      421 aactctacag aatgtacgca ccaggctgga aattctagag aagggtcttg ccacttctct
      481 gcagaatgat cttcaggagg tgcccaagtt atatccagaa tttccaccta aagacatgtg
      541 tgaaaaatta ccagagcctc agtcttttag ttcagctcct cagcatgctg aagtaaatgg
      601 aaacacctca actccaagtg caggggcagt tgctgcacct gcttctctgt ctttaccatc
      661 acaaagttgt ccagcagaag ctcctcctgc ttatactcct caagctgctg aaggtcacta
      721 cactgtatcc tatggaacag attctgggga gttttcatca gttggagagg agttttatag
      781 gaatcattct cagccaccgc ctcttgagac cttagggctg gatgcagatg aattgatttt
      841 gataccaaat ggagtacaga ttttttttgt aaatcctgca ggggaggtta gtgcaccttc
      901 gtatcctggg taccttcgaa ttgtgaggtt tttggataat tctctcgata cggttctaaa
      961 ccgtcctccc gggtttcttc aggtttgtga ctggttatat cctctagttc ctgatagatc
     1021 tccggttctg aaatgtactg cgggagccta catgtttcct gatacaatgc tacaagcagc
     1081 aggatgcttt gtgggggtcg tcctgtcctc tgagttacca gaggatgata gagagctctt
     1141 tgaggatctg ttaaggcaaa tgtctgacct tcggctccag gccaactgga acagagcaga
     1201 agaagaaaat gaattccaaa tccctggaag aactagaccc tcctctgacc aactaaaaga
     1261 agcctctggc actgatgtga aacagttgga ccaaggcaat aaggatgtac gtcataaagg
     1321 aaaacgtgga aaaagggcta aagatacttc aagtgaagaa gttaacctga gtcacattgt
     1381 accatgtgag ccagttccag aagaaaagcc aaaagaatta cctgaatgga gtgaaaaagt
     1441 ggctcacaac attttgtcag gtgcttcctg ggtgagttgg ggtttagtca aaggtgctga
     1501 gattactggt aaggcaatcc agaaaggtgc ttctaaactc cgagagcgga ttcaaccaga
     1561 agaaaaaccc gtggaagtta gtccagctgt caccaaggga ctttatatag cgaagcaagc
     1621 tacaggagga gcagcaaaag tcagtcagtt cctggttgat ggagtttgca ctgtagcaaa
     1681 ttgcgttgga aaagaactag ctccacatgt caagaagcat ggaagcaaac ttgttccaga
     1741 atctcttaaa aaagacaaag atgggaaatc tcctctggat ggtgctatgg ttgtagcagc
     1801 aagtagtgtt caaggatttt caactgtctg gcaaggattg gaatgtgcag ctaaatgcat
     1861 cgttaacaat gtttcagcag aaactgtaca aactgtcaga tacaaatacg gatataatgc
     1921 aggagaagct acccaccatg cggtggattc tgcggtcaat gttggcgtaa ctgcctacaa
     1981 tattaacaac attggtatca aagcaatggt gaagaaaact gcaacacaaa caggacacac
     2041 tctccttgag gactatcaga tagttgataa ttctcagagg gaaaatcaag aaggagcagc
     2101 aaatgtcaac gtgagagggg agaaggatga gcagacgaag gaagtaaagg aggcaaagaa
     2161 gaaagataaa tgatgaagtg ctgggaatca cttataccaa agccttatga aatggatgaa
     2221 attttgttaa ataggcaaat gtggaattcc tcacagatta accagtattt tttaaatgta
     2281 ttcattccta caaattaact ttcataaatt ttatggcatg tcttctattt aaaaggaaaa
     2341 gaataagtat tcttgcatct ggccttagaa atgtgaagtt atattctcaa gtttattttt
     2401 ttccaagtgt agctaaaata tttttgcagg taaaataaag ctgatagtac atgtgttgtt
     2461 caaaccttgt taaacctaat attgaactat ttttatatct gctgtctttc agaaggcaaa
     2521 taggaaacta tatatttgct taaaaattgg catttagtaa ccttaattct ttttatagaa
     2581 ggaatgactt aaagtattgt cccctctttt tgcactaatt gtggattttt ttagatgctt
     2641 ctcaaaattt tcagtgtgta agctaaacaa aaactaaaac taagaattct caaaaaaact
     2701 tgttcaaaac agggaaagac tgatgaaaag taaaatggac tacttttgta acttacctgt
     2761 ttgttaggaa atggaatggt ctctttgatt taaaataaat aaaaatagat tattacgtct
     2821 tttgtattga gactgtattg ttatgagcct aggaaatttg ggaacatgat tgtattgtat
     2881 taaaattcga agtgattatt atcagcttaa ttggattaaa aaagtacttc aagaaattat
     2941 tttatcatat ctgcttctgt ttttccaaaa ggttaaaact tgtaaaaaaa atatatataa
     3001 acaattgagt ttactaatgg taaacatttt tattctggga ttcggtcatt ggaatttata
     3061 ttaaaagaca agttattaaa aaggaaaggt tctattcata atcagggtaa agaatatgaa
     3121 aaccttagac gtaatccatg gtggataggc attatggttt ccactttggc agaaggcaga
     3181 ctattcacag ccctatttac ttacataggc taaaaaacta tgtaactaaa tacctaatgg
     3241 tatttaattt ttgtttattg aatttaagag attggtatta gttttcatag ctgtagtcca
     3301 ttctaataat ttctgatctt ctagtggcta cttaattaga cattatttga agctgtctga
     3361 agaatgcact ttatgaatta aaaaactgaa ttgcctgacc tcgttatcac atgagcttat
     3421 attttgggaa cacatagaac tgatggaggc ttttcctaag gccaaggata atgtactagt
     3481 tgttaaaatg gaaataaaag tgaagtggta aatagcttac agacagtcta tgctttgttt
     3541 aagaaatgga atggcacttc atatattctc atttgtggga gctaaaaatt acaataatca
     3601 aacttaagga gatagagagt agaatgatgg ttaccagagg ctgggaggca ttgaagggat
     3661 ggggagggaa gtgaggttga ttaatgggta cgaaaatata gttagaacga atttgttgta
     3721 gtatttgata gcccaacagg gtgactacag tcaacaataa ctttatacat ttaaaaataa
     3781 aagagtgtaa ttgggacgtt tgtaacacaa atgaatgctt gaagcagtag atacaccctg
     3841 atgtaattat tataaatcgc atacctgtat caaaatatct catgtatccc ataaatatat
     3901 acacctacca tgtacccata aaaatttaaa aagaaatgga atggcaaata atggaacata
     3961 aactttaaac agttagcttt gaccagaggt cagcaaatat cctccatggg ctaaatccag
     4021 atgtccacct gttttcataa ataacgtttt attggagcat agctgtaccc atttgtttac
     4081 atattggcta tggctgctgt ctagttcaac gtgagagttg aatagttgca tcagagagta
     4141 tatggtccac aagcctaact tattcactct ctggcccttt gcagaaaaag tgtgctgcct
     4201 tagtctatag aaaatggact tttcccacca ttcactgact cattaggaga taggcatctt
     4261 ctaaagattt tttttatatt gtgtaatgat tgatatatag ataaaattat atattacttg
     4321 taaggtatga tgaataacaa cacttaaaaa ctcatcacac ctaaagacat ggaaagctgc
     4381 caattaccta tatgtatgtt cttcctattt tcttacctct ttccccatgt cattttttat
     4441 tgttccttgc cattttttaa tcacacatgt atgttctcca aacatactgt ttcatttttt
     4501 gaagctttct acatatagtg tctgaatgtg aagtcttact caacttgctt ttttgagttt
     4561 atgtttaaaa ttcattcttg cgcttatatg catggatggt ttacttgctc tatagtattc
     4621 tgtgtgagta taccacaatt taagtgttca ttttcctatc agttgacatt tgtttttagt
     4681 ttttgttggt agaaacagta cactcaaaac atccttgact gtcccctggt acacatatgc
     4741 aagagacttt atgcgtaaga gtggagttgt tggcttgtca agttttgcaa aataatgcca
     4801 ggtattttcc aaaatgatga tattctcttg agtattactt ccctttgcaa tgtttttatt
     4861 gttaatgtag catatataaa aaagtatctc ataattttaa
//
